Varaico: Literature-Extracted Genetic Variants

Gene:RFT1
Variant:p.G340S
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RFT1

NM_052859.4:p.G340S

Associated Papers

Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.

Hirata E et al.

The Journal of Biological Chemistry, 2024

Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.

Hirata E et al.

Biorxiv : the Preprint Server for Biology, 2024

A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation.

Abiramalatha T et al.

European Journal of Medical Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."